Mutagenetix > Incidental Mutation

Incidental Mutation 'R7221:Elovl1'

561806

Institutional Source

Beutler Lab

Gene Symbol

Elovl1

Ensembl Gene

ENSMUSG00000006390

Gene Name

ELOVL fatty acid elongase 1

Synonyms

Ssc1, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1

MMRRC Submission

045293-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118285290-118290150 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118288811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 167 (H167Y)

Ref Sequence

ENSEMBL: ENSMUSP00000006557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006557] [ENSMUST00000006565] [ENSMUST00000067896] [ENSMUST00000102673] [ENSMUST00000167636]

AlphaFold

Q9JLJ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000006557
AA Change: H167Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006557
Gene: ENSMUSG00000006390
AA Change: H167Y

Domain	Start	End	E-Value	Type
Pfam:ELO	23	263	3.1e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000006565

SMART Domains

Protein: ENSMUSP00000006565
Gene: ENSMUSG00000006398

Domain	Start	End	E-Value	Type
WD40	169	210	7.36e1	SMART
WD40	215	254	3.64e-2	SMART
WD40	257	294	9.6e-2	SMART
WD40	298	337	1.62e-8	SMART
WD40	344	386	8.29e-6	SMART
WD40	389	429	2.21e1	SMART
WD40	432	471	7.85e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000067896
AA Change: H167Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064816
Gene: ENSMUSG00000006390
AA Change: H167Y

Domain	Start	End	E-Value	Type
Pfam:ELO	23	262	8.5e-67	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102673
AA Change: H90Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099734
Gene: ENSMUSG00000006390
AA Change: H90Y

Domain	Start	End	E-Value	Type
Pfam:ELO	2	186	5.8e-52	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167636
AA Change: H167Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390
AA Change: H167Y

Domain	Start	End	E-Value	Type
Pfam:ELO	23	263	3.1e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183942

Meta Mutation Damage Score

0.1367

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (77/77)

MGI Phenotype

PHENOTYPE: Mice hoozygous for a targeted allele exhibit complete neonatal lethality, abnormal skin morphology, impaired skin barrier function, decreased weight and impaired formation of very long chain fatty acids. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,836,354 (GRCm39)		probably benign	Het
Abr	A	C	11: 76,313,987 (GRCm39)	M720R	probably benign	Het
Acad10	G	A	5: 121,768,273 (GRCm39)	T761M	probably damaging	Het
Agxt	G	T	1: 93,065,623 (GRCm39)	G164V	possibly damaging	Het
Ankar	C	T	1: 72,689,390 (GRCm39)	G1247D	probably damaging	Het
Bptf	A	C	11: 106,945,658 (GRCm39)	L2527R	probably damaging	Het
Brinp2	T	C	1: 158,094,117 (GRCm39)	H195R	possibly damaging	Het
Cacna2d4	G	T	6: 119,213,624 (GRCm39)	R14S	probably benign	Het
Cep126	A	T	9: 8,100,988 (GRCm39)	C515*	probably null	Het
Chia1	A	T	3: 106,039,236 (GRCm39)	N442I	probably damaging	Het
Clasp2	A	G	9: 113,681,825 (GRCm39)	D327G	probably damaging	Het
Cnbd2	T	C	2: 156,215,581 (GRCm39)	F519L	probably benign	Het
Cntrl	T	A	2: 35,041,869 (GRCm39)	F1214I	possibly damaging	Het
Cul9	A	T	17: 46,839,491 (GRCm39)	M829K	probably damaging	Het
Cyp4b1	T	C	4: 115,493,175 (GRCm39)	Q223R	possibly damaging	Het
Defb37	A	T	8: 19,040,988 (GRCm39)	M1K	probably null	Het
Dnah7c	A	T	1: 46,494,937 (GRCm39)	Q55L	possibly damaging	Het
Efcab3	A	G	11: 104,791,432 (GRCm39)	N2882S	probably benign	Het
Eif2b4	A	T	5: 31,345,131 (GRCm39)	D463E	possibly damaging	Het
Elapor1	T	G	3: 108,382,317 (GRCm39)	D232A	possibly damaging	Het
Emb	T	A	13: 117,404,013 (GRCm39)	L255Q	probably damaging	Het
Eogt	T	C	6: 97,089,685 (GRCm39)	Y465C	probably damaging	Het
Erc2	A	G	14: 27,375,115 (GRCm39)	H111R	probably damaging	Het
Fam234b	T	C	6: 135,205,529 (GRCm39)	F498S	probably damaging	Het
Fgfr3	GAGGCTGGCAGCGTGTACGCAGGC	GAGGC	5: 33,890,092 (GRCm39)		probably null	Het
Flrt3	T	A	2: 140,503,090 (GRCm39)	E179D	probably damaging	Het
Fndc3a	T	C	14: 72,793,597 (GRCm39)	R993G	probably benign	Het
Gm14325	T	C	2: 177,476,403 (GRCm39)	T14A	probably damaging	Het
Gm5464	T	A	14: 67,106,681 (GRCm39)	V106D	unknown	Het
Gpatch11	T	A	17: 79,149,546 (GRCm39)	I182N	possibly damaging	Het
Grm6	A	G	11: 50,753,870 (GRCm39)	R725G	probably damaging	Het
Hap1	A	T	11: 100,239,655 (GRCm39)	M588K	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ints8	A	G	4: 11,225,613 (GRCm39)	M648T	probably benign	Het
Ipo11	A	T	13: 107,029,065 (GRCm39)	L296Q	probably damaging	Het
Kirrel1	G	A	3: 86,993,704 (GRCm39)	Q518*	probably null	Het
Krt18	G	T	15: 101,937,967 (GRCm39)	D155Y	possibly damaging	Het
Lctl	A	T	9: 64,026,217 (GRCm39)	K91*	probably null	Het
Marf1	C	A	16: 13,960,349 (GRCm39)	R565L	probably damaging	Het
Med13	A	T	11: 86,178,921 (GRCm39)	D1458E	probably benign	Het
Mroh8	T	A	2: 157,071,837 (GRCm39)	Y556F	probably benign	Het
Muc16	C	T	9: 18,553,495 (GRCm39)	G4266D	probably benign	Het
Nsrp1	A	T	11: 76,939,249 (GRCm39)	F182I	probably damaging	Het
Obox3	A	T	7: 15,359,983 (GRCm39)	Y229N	probably benign	Het
Or11h7	A	T	14: 50,891,528 (GRCm39)	Y278F	probably damaging	Het
Or2b2	T	C	13: 21,887,272 (GRCm39)	S34P	probably damaging	Het
Or2b4	A	G	17: 38,116,452 (GRCm39)	K139E	probably benign	Het
Or4a74	T	C	2: 89,440,272 (GRCm39)	Y58C	probably damaging	Het
Or4c108	A	G	2: 88,803,497 (GRCm39)	V246A	probably damaging	Het
Or4p22	T	A	2: 88,317,973 (GRCm39)	V299D	probably damaging	Het
Or8d1	A	G	9: 38,766,538 (GRCm39)	Y60C	probably damaging	Het
Pabpc2	T	A	18: 39,906,963 (GRCm39)	V76D	possibly damaging	Het
Parp9	T	C	16: 35,774,071 (GRCm39)	W348R	probably benign	Het
Pdp1	T	C	4: 11,961,004 (GRCm39)	T455A	probably damaging	Het
Phactr2	A	C	10: 13,122,783 (GRCm39)	D446E	possibly damaging	Het
Pi4kb	T	C	3: 94,901,500 (GRCm39)	L389P	probably damaging	Het
Pla2g4f	C	T	2: 120,131,476 (GRCm39)	R749H	probably benign	Het
Plec	A	G	15: 76,059,974 (GRCm39)	V3321A	probably damaging	Het
Plod2	T	C	9: 92,466,580 (GRCm39)	V180A	probably damaging	Het
Plppr5	A	G	3: 117,414,618 (GRCm39)	I80V	probably damaging	Het
Potefam3d	T	G	8: 69,975,316 (GRCm39)	D50A	probably benign	Het
Rubcn	T	C	16: 32,687,293 (GRCm39)		probably null	Het
Sacs	T	C	14: 61,446,255 (GRCm39)	V2767A	probably damaging	Het
Selenbp2	C	G	3: 94,611,133 (GRCm39)	Y414*	probably null	Het
Slc45a4	A	T	15: 73,458,259 (GRCm39)	M430K	probably benign	Het
Smg1	A	G	7: 117,782,020 (GRCm39)	L1145P	possibly damaging	Het
Spns2	A	G	11: 72,347,742 (GRCm39)	V316A	probably benign	Het
Srl	T	A	16: 4,300,811 (GRCm39)	E753D	probably damaging	Het
Thada	T	C	17: 84,771,794 (GRCm39)	T23A	possibly damaging	Het
Tmem231	T	C	8: 112,660,308 (GRCm39)	T31A	probably benign	Het
Tpr	C	T	1: 150,321,929 (GRCm39)	T2321M	possibly damaging	Het
Ttn	T	A	2: 76,772,195 (GRCm39)	N2615I	unknown	Het
Vmn1r41	A	G	6: 89,724,034 (GRCm39)	I192V	probably benign	Het
Vmn2r83	A	T	10: 79,316,001 (GRCm39)	T466S	probably benign	Het
Vnn1	A	G	10: 23,770,952 (GRCm39)	D60G	probably benign	Het
Wiz	G	A	17: 32,578,139 (GRCm39)	P449S	probably benign	Het
Zic1	A	G	9: 91,246,785 (GRCm39)	S96P	probably damaging	Het
Zw10	T	A	9: 48,981,012 (GRCm39)	S471T	probably benign	Het

Other mutations in Elovl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Elovl1	APN	4	118,288,107 (GRCm39)	splice site	probably null
IGL01613:Elovl1	APN	4	118,288,467 (GRCm39)	missense	probably benign	0.06
IGL02598:Elovl1	APN	4	118,288,616 (GRCm39)	splice site	probably null
IGL03082:Elovl1	APN	4	118,288,077 (GRCm39)	missense	probably benign	0.00
R1323:Elovl1	UTSW	4	118,288,851 (GRCm39)	missense	possibly damaging	0.79
R1323:Elovl1	UTSW	4	118,288,851 (GRCm39)	missense	possibly damaging	0.79
R1521:Elovl1	UTSW	4	118,289,197 (GRCm39)	missense	probably benign	0.14
R1765:Elovl1	UTSW	4	118,287,707 (GRCm39)	start codon destroyed	probably null	0.13
R1894:Elovl1	UTSW	4	118,287,945 (GRCm39)	missense	probably damaging	0.99
R2139:Elovl1	UTSW	4	118,288,303 (GRCm39)	missense	probably damaging	0.99
R4667:Elovl1	UTSW	4	118,287,984 (GRCm39)	missense	probably damaging	1.00
R4957:Elovl1	UTSW	4	118,289,120 (GRCm39)	missense	probably damaging	1.00
R5262:Elovl1	UTSW	4	118,288,124 (GRCm39)	unclassified	probably benign
R5665:Elovl1	UTSW	4	118,288,832 (GRCm39)	missense	probably damaging	0.99
R5775:Elovl1	UTSW	4	118,288,094 (GRCm39)	missense	probably benign	0.27
R6676:Elovl1	UTSW	4	118,287,700 (GRCm39)	unclassified	probably benign
R8701:Elovl1	UTSW	4	118,287,707 (GRCm39)	start codon destroyed	probably benign	0.00
R8971:Elovl1	UTSW	4	118,288,709 (GRCm39)	missense	probably damaging	1.00
R9129:Elovl1	UTSW	4	118,289,156 (GRCm39)	missense	possibly damaging	0.91
R9506:Elovl1	UTSW	4	118,287,912 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAAGTGACCTTCCTCCATGTC -3'
(R):5'- TCAGAAATAGGTTGGGGCGC -3'

Sequencing Primer
(F):5'- CATGTCTTCCACCACTCGG -3'
(R):5'- TAGGTTGGGGCGCAGAGG -3'

Posted On

2019-06-26